Evaluation of SMN Protein, Transcript, and Copy Number in the Biomarkers for Spinal Muscular Atrophy (BforSMA) Clinical Study

• Published in: PloS one Vol. 7; no. 4; p. e33572
• Main Authors: Crawford, Thomas O., Paushkin, Sergey V., Kobayashi, Dione T., Forrest, Suzanne J., Joyce, Cynthia L., Finkel, Richard S., Kaufmann, Petra, Swoboda, Kathryn J., Tiziano, Danilo, Lomastro, Rosa, Li, Rebecca H., Trachtenberg, Felicia L., Plasterer, Thomas, Chen, Karen S.
• Format: Journal Article
• Language: English
• Published: United States Public Library of Science 27.04.2012; Public Library of Science (PLoS)
• Subjects: Age Factors; Analysis of Variance; Atrophy; Biology; Biomarkers; Biomarkers - metabolism; Blood; Case-Control Studies; Clinical trials; Copy number; Correlation; Correlation analysis; Cross-Sectional Studies; Departments; DNA Copy Number Variations - genetics; DNA Copy Number Variations - physiology; DNA Primers - genetics; Drug development; Female; Genes; Humans; Male; Medical research; Medicine; Metabolites; Motor Activity - physiology; Motor task performance; Muscular Atrophy, Spinal - genetics; Muscular Atrophy, Spinal - metabolism; Mutation; Neurology; Neuromuscular diseases; Pediatrics; Phenotypic variations; Prospective Studies; Proteins; Real-Time Polymerase Chain Reaction; Rodents; SMN protein; Spinal muscular atrophy; States; Survival of Motor Neuron 2 Protein - metabolism; Therapeutics; Tissues; Transcription; New York; United States > US; Massachusetts

The universal presence of a gene (SMN2) nearly identical to the mutated SMN1 gene responsible for Spinal Muscular Atrophy (SMA) has proved an enticing incentive to therapeutics development. Early disappointments from putative SMN-enhancing agent clinical trials have increased interest in improving t...